Description
This panel is used for clinical indication 'R139 Laterality disorders and isomerism' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R139 Laterality disorders and isomerism'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

3 reviewers

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

56 Entities

56 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
56 Entitiess
Green Green List (high evidence)
ACVR2B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Tags
Green Green List (high evidence)
ARMC4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Tags
Green Green List (high evidence)
C11orf70
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 38, 618063
Tags
  • new-gene-name
Green Green List (high evidence)
C21orf59
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC103
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
Tags
Green Green List (high evidence)
CCDC114
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
Green Green List (high evidence)
CCDC151
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 30, 616037
Tags
Green Green List (high evidence)
CCDC39
2 reviews
2 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
CCDC40
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
CFAP53
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
CFC1
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAAF1
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAAF2
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAAF3
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAAF4
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAAF5
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAH11
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAH5
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAH9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia
Tags
Green Green List (high evidence)
DNAI1
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAI2
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DNAL1
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
GDF1
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
LRRC56
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 39, 618254
  • Mucociliary Clearance and Laterality Defe
Tags
Green Green List (high evidence)
LRRC6
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
MMP21
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
NODAL
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
PIH1D3
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
SPAG1
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
TTC25
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
ZIC3
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
ZMYND10
1 review
1 green
Not set
Sources
  • Expert Review Green
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
ACTC1
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
ACTG2
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CCDC65
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CRELD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
Tags
Amber Amber List (moderate evidence)
DNAH1
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
DNAH8
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
FANCB
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
LZTFL1
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
MYH6
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
NKX2-5
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
NPHP4
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
PKD1L1
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Red Red List (low evidence)
CCNO
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
DNAJB13
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
DRC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
GAS8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
HYDIN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
LETM1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
NME8
2 reviews
1 green 1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
NSD2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
RSPH1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
RSPH3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
RSPH4A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
RSPH9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags

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